ClinVar

NM_000368.5(TSC1):c.664-15A>G

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132921451 (on Assembly GRCh38)
• Chr9: 135796838 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.664-15A>G

HGVS:

• NC_000009.12:g.132921451T>C
• NG_012386.1:g.28183A>G
• NM_000368.5:c.664-15A>GMANE SELECT
• NM_001162426.2:c.664-15A>G
• NM_001162427.2:c.511-15A>G
• NM_001362177.2:c.301-15A>G
• LRG_486t1:c.664-15A>G
• LRG_486:g.28183A>G
• NC_000009.11:g.135796838T>C
• NC_000009.11:g.135796838T>C
• NM_000368.3:c.664-15A>G
• NM_000368.4:c.664-15A>G
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC1): TSC1_00035; dbSNP: rs118203422

NCBI 1000 Genomes Browser:

rs118203422

Molecular consequence:

• NM_000368.5:c.664-15A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001162426.2:c.664-15A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001162427.2:c.511-15A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362177.2:c.301-15A>G - intron variant - [Sequence Ontology: SO:0001627]